Direct-to-consumer testing 2.0: emerging models of direct-to-consumer genetic testing

MA Allyse, DH Robinson, MJ Ferber, RR Sharp - Mayo clinic proceedings, 2018 - Elsevier
Abstract Direct-to-consumer (DTC) genetic testing emerged in the early 2000s as a means of
allowing consumers to access information on their genetics without the involvement of a …

Return of individual research results from genomic research: A systematic review of stakeholder perspectives

DF Vears, JT Minion, SJ Roberts, J Cummings… - PloS one, 2021 - journals.plos.org
Despite the plethora of empirical studies conducted to date, debate continues about whether
and to what extent results should be returned to participants of genomic research. We aimed …

[HTML][HTML] Ethical issues of digital twins for personalized health care service: preliminary mapping study

P Huang, K Kim, M Schermer - Journal of Medical Internet Research, 2022 - jmir.org
Background The concept of digital twins has great potential for transforming the existing
health care system by making it more personalized. As a convergence of health care …

Personal utility in genomic testing: a systematic literature review

JN Kohler, E Turbitt, BB Biesecker - European Journal of Human …, 2017 - nature.com
Researchers and clinicians refer to outcomes of genomic testing that extend beyond clinical
utility as 'personal utility'. No systematic delineation of personal utility exists, making it …

Genomic newborn screening: public health policy considerations and recommendations

JM Friedman, MC Cornel, AJ Goldenberg… - BMC medical …, 2017 - Springer
Background The use of genome-wide (whole genome or exome) sequencing for population-
based newborn screening presents an opportunity to detect and treat or prevent many more …

Clinical utility of genomic testing in cancer care

D Pritchard, C Goodman, LD Nadauld - JCO Precision Oncology, 2022 - ascopubs.org
PURPOSE In the era of personalized medicine, physicians rely on their understanding of
clinical utility to assess the value of rapidly evolving genetic and genomic tests. Current …

Identification of neuropsychiatric copy number variants in a health care system population

CL Martin, KE Wain, MT Oetjens, K Tolwinski… - JAMA …, 2020 - jamanetwork.com
Importance Population screening for medically relevant genomic variants that cause
diseases such as hereditary cancer and cardiovascular disorders is increasing to facilitate …

Perceived utility and disutility of genomic sequencing for pediatric patients: Perspectives from parents with diverse sociodemographic characteristics

MC Halley, JL Young, L Fernandez… - American Journal of …, 2022 - Wiley Online Library
Given the limited therapeutic options for most rare diseases diagnosed through genomic
sequencing (GS) and the proportion of patients who remain undiagnosed even after GS, it is …

Perceived benefits, risks, and utility of newborn genomic sequencing in the BabySeq Project

S Pereira, JO Robinson, AM Gutierrez… - …, 2019 - publications.aap.org
BACKGROUND AND OBJECTIVES: There is interest in applying genomic sequencing (GS)
to newborns' clinical care. Here we explore parents' and clinicians' attitudes toward and …

[HTML][HTML] Patients' views on incidental findings from clinical exome sequencing

KE Clift, CME Halverson, AS Fiksdal… - Applied & Translational …, 2015 - Elsevier
This article characterizes the opinions of patients and family members of patients
undergoing clinical genomic-based testing regarding the return of incidental findings from …